EDARADD (EDAR associated via death domain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
128178
Gene name Gene Name - the full gene name approved by the HGNC.
EDAR associated via death domain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EDARADD
Synonyms (NCBI Gene) Gene synonyms aliases
CR, ECTD11A, ECTD11B, ED3, EDA3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.3-q43
Summary Summary of gene provided in NCBI Entrez Gene.
This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs74315309 G>A Pathogenic Missense variant, coding sequence variant
rs121908116 T>G Pathogenic Missense variant, coding sequence variant
rs397515575 AACGGT>- Pathogenic Coding sequence variant, inframe deletion
rs766500689 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs879255553 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(529)
miRTarBase ID miRNA Experiments Reference
MIRT043891 hsa-miR-378a-3p CLASH 23622248
MIRT040816 hsa-miR-18a-3p CLASH 23622248
MIRT638797 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT638796 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT638795 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0007165 Process Signal transduction IEA
GO:0030154 Process Cell differentiation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606603 14341 ENSG00000186197
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WWZ3
Protein name Ectodysplasin-A receptor-associated adapter protein (EDAR-associated death domain protein) (Protein crinkled homolog)
Protein function Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 122 → 199 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.
Sequence 
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTI
TLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQD
LLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLM
ELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  NF-kappa B signaling pathway   TNFs bind their physiological receptors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal dysplasia ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant, ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive, ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant rs121908116, rs879255553, rs766500689, rs74315309 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cleft Lip With Or Without Cleft Palate Cleft lip with or without cleft palate N/A N/A GWAS
hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia N/A N/A ClinVar
Hypohidrotic ectodermal dysplasia Hypohidrotic Ectodermal Dysplasia, Recessive N/A N/A ClinVar
Hypothyroidism Hypothyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anodontia Associate 22581971, 27665865
Carcinoma Non Small Cell Lung Associate 26449251
Colorectal Neoplasms Stimulate 37838280
Dental Caries Associate 21940522, 39543892
Ectodermal Dysplasia Associate 22581971, 30974434, 34573371, 37673591
Ectodermal Dysplasia 1 Anhidrotic Associate 33205897
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Associate 30974434
Genetic Diseases Inborn Associate 37673591
Neoplasms Associate 32188493
Neural crest tumor Associate 31796081